L88F (p.Leu88Phe) variant of CHM (P24386)
L88F (p.Leu88Phe) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L88F (p.Leu88Phe) variant details
- p.Leu88Phe
- TOPMed rs1931435943
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.21
- MetaLR 0.27
- MetaSVM -0.71
- CADD 24.00
- PolyPhen-2 0.72
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available